Clinical phenotypes, ALK1 gene mutation and level of related plasma proteins in Chinese hereditary hemorrhagic telangiectasia

Chinese Medical Journal

Volumn 117, Issue 6, 2004, Pages 808-812

  Zhang, Guang Sen ^a   Yi, Yan ^a   Peng, Hong Ling ^a   Shen, Jian Kai ^a   Xie, Ding Hua ^b   He, Xiang Bo ^b  

^a CENTRAL SOUTH UNIVERSITY   (China)

^b CENTRAL SOUTH UNIVERSITY   (China)

Author keywords

Activin receptor like kinase 1 gene; Hereditary hemorrhagic telangiectasia; Mutation; Thrombomodulin; Transforming growth factor

Indexed keywords

ACTIVIN RECEPTOR 1; DNA FRAGMENT; THROMBOMODULIN; TRANSFORMING GROWTH FACTOR BETA;

ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHINESE; CONCENTRATION (PARAMETERS); CONTROLLED STUDY; ENDOSCOPY; ENZYME LINKED IMMUNOSORBENT ASSAY; EPISTAXIS; EXON; FEMALE; GENE IDENTIFICATION; GENE MUTATION; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; IMMUNOBLOTTING; MALE; MOLECULAR MECHANICS; NOSE CAVITY; PHENOTYPE; POLYMERASE CHAIN REACTION; PROTEIN BLOOD LEVEL; RENDU OSLER WEBER DISEASE; SIBLING; WESTERN BLOTTING;

ACTIVIN RECEPTORS, TYPE I; ACTIVIN RECEPTORS, TYPE II; AGED; ASIAN CONTINENTAL ANCESTRY GROUP; CHINA; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION; TELANGIECTASIA, HEREDITARY HEMORRHAGIC; THROMBOMODULIN; TRANSFORMING GROWTH FACTOR BETA;

EID: 3242703184     PISSN: 03666999     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (28)

1. Plauchu H, de Chadarevian JP, Bideau A, et al. Age-related clinical profile of hereditary hemorrhagic telangiectasia in an epidemiologically recruited population. Am J Med Genet 1989;32:291-297.
2. Porteous MEM, Burn J, Proctor SJ. Hereditary haemorrhagic telangiectasia: a clinical analysis. J Med Genet 1992;29:527-530.
3. Reyes-Mujica M, Lopez-Corella E, Perez-Fernandez L, et al. Osler-Weber-Rendu disease in an infant. Hum Pathol 1988; 19:1243-1246.
4. Sabba C, Pasculli G, Cirulli A, et al. Rendu-Osler-Weber disease: experience with 56 patients. Ann Ital Med Int 2002; 17:173-179.
5. Dakeishi M, Shioya T, Wada Y, et al. Genetic epidemiology of hereditary hemorrhagic telangiectasia in a local community in the northern part of Japan. Hum Mutat 2002;19:140-148.
6. McAllister KA, Grogg K M, Johnson DW, et al. Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1. Nat Genet 1994;8:345-351.
7. Johnson DW, Berg JN, Baldwin MA, et al. Mutations in the activin receptor-like kinase 1 gene in hereditary hemorrhagic telangiectasia type 2. Nat Genet 1996;13:189-195.
8. Shovlin CL. Molecular defects in rare bleeding disorders: hereditary haemorrhagic telangiectasia. Thromb Haemostas 1997;78:145-150.
9. Heutink P, Haitjema T, Breedveld GJ, et al. Linkage of hereditary haemorrhagic telangiectasia to chromosome 9q34 and evidence for locus heterogeneity. J Med Genet 1994;31: 933-936.
10. McAllister KA, Lennon F, Bowles-Biesecker B, et al. Genetic heterogeneity in hereditary haemorrhagic telangiectasia: possible correlation with clinical phenotype. J Med Genet, 1994;31:927-932.
11. Porteous MEM, Curtis A, Williams O, et al. Genetic heterogeneity in hereditary haemorrhagic telangiectasia. J Med Genet 1994;31:925-926.
12. Berg JN, Guttmacher AE, Marchuk DA, et al. Clinical heterogeneity in hereditary haemorrhagic telangiectasia: are pulmonary arteriovenous malformations more common in families linked to endoglin? J Med Genet 1996;33:256-257.
13. Sholin CL, Scott J. Inherited diseases of the vasculature. Annu Rev Physiol 1996;58:483-507.
14. Sabba C, Cirulli A, Rizzi R, et al. Angiogenesis and hereditary hemorrhagic telangiectasia. Rendu-Osler-Weber disease. Acta Haematol 2001;106:214-219.
15. Berg JN, Gallione CJ, Stenzel TT, et al. The activin receptor-like kinase 1 gene:genomic structure and mutations in hereditary haemorrhagic telangiectasia type 2. Am J Hum Genet. 1997;61:60-67.
16. Olivieri C, Mira E, Delu G, et al. Identification of 13 new mutations in the ACVRL1 gene in a group of 52 unselected Italian patients affected by hereditary haemorrhagic telangiectasia. J Med Genet 2002;39:E39.
17. Kjeldsen AD, Brusgaard K, Poulsen L, et al. Mutations in the ALK-1 gene and the phenotype of hereditary hemorrhagic telangiectasia in two large Danish families. Am J Med Genet 2001;98:298-302.
18. Shovlin CL, Guttmacher AE, Buscarini E, et al. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Am J Med Genet 2000;91:66-67.
19. Aassar OS, Friedman CM, White RI, et al. The natural history of epistaxis in hereditary hemorrhagic telangiectasia. Laryngoscope 1991;101:977-980.
20. Dines DE, Arms RA, Bernatz PE, et al. Pulmonary arteriovenous fistulas. Mayo Clin Proc 1974;49:460-465.
21. Guttmacher AE, Marchuk DA, White RI. Hereditary hemorrhagic telangiectasia. N Engl J Med 1995;333:918-924.
22. Abdalla SA, Geisthoff UW, Bonneau D, et al. Visceral manifestations in hereditary haemorrhagic telangiectasia type 2. J Med Genet 2003;40:494-502.
23. Trembata RC, Thomson JR, Machado RD, et al. Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary haemorrhagic telangiectasia. N Engl J Med 2001;345:325-334.
24. Pepper MS. Transforming growth factor-beta: vasculogenesis, angiogenesis, and vessel wall integrity. Cytokine Growth Factor Rev 1997;8:21-43.
25. Blobe GC, Schiemann WP, Lodish HF. Role of transforming growth factor β in human disease. N Engl J Med 2000;342: 1350-1358.
26. Berg J, Porteous M, Reinhardt D, et al. Hereditary haemorrhagic telangiectasia: a questionnaire based on study to delineate the different phenotypes caused by endoglin and ALK1 mutation. J Med Genet 2003;40:585-590.
27. Ishii H, Nakano M, Tsubouchi J, et al. Establishment of enzyme immunoassay of human thrombomodulin in plasma and urine using monoclonal antibodies. Thromb Haemost 1990; 693:157-162.
28. Ishii H, Uchiyama H, Kazama M. Soluble thrombomodulin antigen in conditioned medium is increased by damage of endothelia cells. Thromb Haemost 1991;65:618-623.